Canonical Allele Identifier: CA537508471

Gene: SCN1A

Linked Data

• dbSNP Id: rs1197271010
• gnomAD v2: 2-166868573-AAGAC-A
• gnomAD v4: 2-166012063-AAGAC-A
• MyVariant Identifiers: chr2:g.166868574_166868577del (hg19) ; chr2:g.166012064_166012067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166012065_166012068del , CM000664.2:g.166012065_166012068del	GRCh38
NC_000002.11:g.166868575_166868578del , CM000664.1:g.166868575_166868578del	GRCh37
NC_000002.10:g.166576821_166576824del	NCBI36
NG_011906.1:g.66573_66576del , LRG_8:g.66573_66576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*1915+42_*1915+45del	ENSP00000509637.1:n.*1915+42_*1915+45del
ENST00000303395.9:c.3879+42_3879+45del	ENSP00000303540.4:n.3879+42_3879+45del
ENST00000635750.1:c.3846+42_3846+45del	ENSP00000490799.1:n.3846+42_3846+45del
ENST00000635776.1:c.3846+42_3846+45del	ENSP00000490692.1:n.3846+42_3846+45del
ENST00000636194.1:c.*1372+42_*1372+45del	ENSP00000490288.1:n.*1372+42_*1372+45del
ENST00000637038.1:c.677+42_677+45del
ENST00000637968.1:n.4131+42_4131+45del
ENST00000637988.1:c.3846+42_3846+45del	ENSP00000490780.1:n.3846+42_3846+45del
ENST00000640036.1:c.3846+42_3846+45del	ENSP00000491573.1:n.3846+42_3846+45del
ENST00000641575.1:c.3843+42_3843+45del	ENSP00000492917.1:n.3843+42_3843+45del
ENST00000641603.1:c.3879+42_3879+45del	ENSP00000492945.1:n.3879+42_3879+45del
ENST00000641996.1:c.*3433+42_*3433+45del	ENSP00000493054.1:n.*3433+42_*3433+45del
ENST00000671940.1:c.*1822+42_*1822+45del	ENSP00000500336.1:n.*1822+42_*1822+45del
ENST00000673490.1:n.6352+42_6352+45del
ENST00000674923.1:c.3879+42_3879+45del MANE Select	ENSP00000501589.1:n.3879+42_3879+45del
ENST00000303395.8:c.3879+42_3879+45del	ENSP00000303540.4:n.3879+42_3879+45del
ENST00000375405.7:c.3846+42_3846+45del	ENSP00000364554.3:n.3846+42_3846+45del
ENST00000409050.1:c.3795+42_3795+45del	ENSP00000386312.1:n.3795+42_3795+45del
ENST00000423058.6:c.3879+42_3879+45del	ENSP00000407030.2:n.3879+42_3879+45del
NM_001165963.1:c.3879+42_3879+45del	NP_001159435.1:n.3879+42_3879+45del
NM_001165964.1:c.3795+42_3795+45del	NP_001159436.1:n.3795+42_3795+45del
NM_001202435.1:c.3879+42_3879+45del	NP_001189364.1:n.3879+42_3879+45del
NM_006920.4:c.3846+42_3846+45del , LRG_8t1:c.3846+42_3846+45del	NP_008851.3:n.3846+42_3846+45del
NR_110598.1:n.176-3548_176-3545del
XM_011511598.1:c.3879+42_3879+45del	XP_011509900.1:n.3879+42_3879+45del
XM_011511599.1:c.3879+42_3879+45del	XP_011509901.1:n.3879+42_3879+45del
XM_011511600.1:c.3879+42_3879+45del	XP_011509902.1:n.3879+42_3879+45del
XM_011511601.1:c.3879+42_3879+45del	XP_011509903.1:n.3879+42_3879+45del
XM_011511602.1:c.3879+42_3879+45del	XP_011509904.1:n.3879+42_3879+45del
XM_011511603.1:c.3876+42_3876+45del	XP_011509905.1:n.3876+42_3876+45del
XM_011511604.1:c.3846+42_3846+45del	XP_011509906.1:n.3846+42_3846+45del
XM_011511605.1:c.3843+42_3843+45del	XP_011509907.1:n.3843+42_3843+45del
XM_011511606.1:c.3795+42_3795+45del	XP_011509908.1:n.3795+42_3795+45del
XM_011511607.1:c.3879+42_3879+45del	XP_011509909.1:n.3879+42_3879+45del
XR_922981.1:n.4063+42_4063+45del
NM_001165963.2:c.3879+42_3879+45del	NP_001159435.1:n.3879+42_3879+45del
NM_001165964.2:c.3795+42_3795+45del	NP_001159436.1:n.3795+42_3795+45del
NM_001202435.2:c.3879+42_3879+45del	NP_001189364.1:n.3879+42_3879+45del
NM_001353948.1:c.3879+42_3879+45del	NP_001340877.1:n.3879+42_3879+45del
NM_001353949.1:c.3846+42_3846+45del	NP_001340878.1:n.3846+42_3846+45del
NM_001353950.1:c.3846+42_3846+45del	NP_001340879.1:n.3846+42_3846+45del
NM_001353951.1:c.3846+42_3846+45del	NP_001340880.1:n.3846+42_3846+45del
NM_001353952.1:c.3846+42_3846+45del	NP_001340881.1:n.3846+42_3846+45del
NM_001353954.1:c.3843+42_3843+45del	NP_001340883.1:n.3843+42_3843+45del
NM_001353955.1:c.3843+42_3843+45del	NP_001340884.1:n.3843+42_3843+45del
NM_001353957.1:c.3795+42_3795+45del	NP_001340886.1:n.3795+42_3795+45del
NM_001353958.1:c.3795+42_3795+45del	NP_001340887.1:n.3795+42_3795+45del
NM_001353960.1:c.3792+42_3792+45del	NP_001340889.1:n.3792+42_3792+45del
NM_001353961.1:c.1437+42_1437+45del	NP_001340890.1:n.1437+42_1437+45del
NM_006920.5:c.3846+42_3846+45del	NP_008851.3:n.3846+42_3846+45del
NR_148667.1:n.4251+42_4251+45del
XR_001738883.1:n.4265+42_4265+45del
XR_001738884.1:n.4237+42_4237+45del
NM_001165963.3:c.3879+42_3879+45del	NP_001159435.1:n.3879+42_3879+45del
NM_001165964.3:c.3795+42_3795+45del	NP_001159436.1:n.3795+42_3795+45del
NM_001202435.3:c.3879+42_3879+45del	NP_001189364.1:n.3879+42_3879+45del
NM_001353948.2:c.3879+42_3879+45del	NP_001340877.1:n.3879+42_3879+45del
NM_001353949.2:c.3846+42_3846+45del	NP_001340878.1:n.3846+42_3846+45del
NM_001353950.2:c.3846+42_3846+45del	NP_001340879.1:n.3846+42_3846+45del
NM_001353951.2:c.3846+42_3846+45del	NP_001340880.1:n.3846+42_3846+45del
NM_001353952.2:c.3846+42_3846+45del	NP_001340881.1:n.3846+42_3846+45del
NM_001353954.2:c.3843+42_3843+45del	NP_001340883.1:n.3843+42_3843+45del
NM_001353955.2:c.3843+42_3843+45del	NP_001340884.1:n.3843+42_3843+45del
NM_001353957.2:c.3795+42_3795+45del	NP_001340886.1:n.3795+42_3795+45del
NM_001353958.2:c.3795+42_3795+45del	NP_001340887.1:n.3795+42_3795+45del
NM_001353960.2:c.3792+42_3792+45del	NP_001340889.1:n.3792+42_3792+45del
NM_001353961.2:c.1437+42_1437+45del	NP_001340890.1:n.1437+42_1437+45del
NM_006920.6:c.3846+42_3846+45del	NP_008851.3:n.3846+42_3846+45del
NR_148667.2:n.4232+42_4232+45del
NM_001165963.4:c.3879+42_3879+45del MANE Select	NP_001159435.1:n.3879+42_3879+45del